| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (9.2%) |
29308451 (5754005) |
Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures. Sirsi D, Dolce A, Greenberg BM, Thodeson D. Ann Clin Case Rep. 2016;1:. |
| Seizure Autoimmunity | ||
| 2 (5.0%) |
31045803 |
Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet: A case report. Wei Z, Wang L, Deng Y. Medicine (Baltimore). 2019;98(18):e15428. |
| Seizure | ||
| SLC2A1 | ||
| Child, Preschool Homo sapiens Ketogenic Diet Male Mutation Myoclonic Epilepsy | ||
| 2 (5.0%) |
28673533 |
Successful corpus callosotomy for Doose syndrome. Kanai S, Okanishi T, Nishimura M, Iijima K, Yokota T, Yamazoe T, Fujimoto A, Enoki H, Yamamoto T. Brain Dev. 2017;39(10):882-885. |
| Intellectual disability | ||
| Child Corpus Callosum Electroencephalography Epilepsy Epilepsy, Generalized Homo sapiens Male Myoclonic Epilepsy Seizures Vagus Nerve Stimulation | ||
| 2 (5.0%) |
28246062 |
Epilepsy with myoclonic atonic seizures and chronic cerebellar symptoms associated with antibodies against glutamate receptors N2B and D2 in serum and cerebrospinal fluid. Matsuura R, Hamano SI, Ikemoto S, Hirata Y, Suzuki K, Kikuchi K, Takahashi Y. Epileptic Disord. 2017;19(1):94-98. |
| Seizure | ||
| GLUD2 GRIN2B | ||
| Autoantibodies Cerebellar Ataxia Child, Preschool Homo sapiens Male Myoclonic Epilepsy N-Methyl-D-Aspartate Receptors | ||
| 2 (5.0%) |
27600546 (5223550) |
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. Pediatr Neurol. 2016;64:77-79. |
| Seizure | ||
| SLC6A1 | ||
| c|SUB|G|491|A p|SUB|C|164|Y | ||
| Child Females Homo sapiens Ketogenic Diet Models, Molecular Mutation Myoclonic Epilepsy | ||
| 2 (5.0%) |
27506632 |
Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome). Pittau F, Korff CM, Nordli DR Jr. Epileptic Disord. 2016;18(3):289-96. |
| Seizure | ||
| CYREN | ||
| Child Electroencephalography Homo sapiens Male Muscle Weakness Myoclonus Seizures Syndrome | ||
| 2 (5.0%) |
26979444 |
Tonic Seizure Status Epilepticus Triggered by Valproate in a Child with Doose Syndrome. Grande-Martin A, Pardal-Fernandez JM, Carrascosa-Romero MC, De Cabo C. Neuropediatrics. 2016;47(3):187-9. |
| Seizure | ||
| Anticonvulsants Child Electroencephalography Homo sapiens Male Myoclonic Epilepsy Seizures Status Epilepticus Syndrome | ||
| 2 (5.0%) |
18210864 |
[Epileptic spasms without hypsarrhythmia showing astatic seizures in clusters]. Higurashi N, Hamano S, Yoshinari S, Tanaka M, Minamitani M, Eto Y. No To Hattatsu. 2008;40(1):49-53. |
| Seizure | ||
| POMC | ||
| Electroencephalography Females Homo sapiens Infant Myoclonic Epilepsy Seizures Spasm | ||
| 2 (5.0%) |
8851292 |
[Nosology of Lennox-Gastaut syndrome]. Hirt HR. Nervenarzt. 1996;67(2):109-22. |
| Seizure | ||
| Absence Epilepsy Adult Child Child, Preschool Differential Diagnosis Electroencephalography Evoked Potentials Females Homo sapiens Infant Intellectual Disability Male Myoclonic Epilepsy Polysomnography Sleep Stages Status Epilepticus Syndrome | ||
| 2 (5.0%) |
8753132 |
[A successful treatment with a continuous intravenous lidocaine for a cluster of minor seizures in a patient with Doose syndrome]. Kanemura H, Aihara M, Sata Y, Hatakeyama K, Hinohara Y, Kamiya Y, Shimoda C, Nakazawa S. No To Hattatsu. 1996;28(4):325-31. |
| Seizure | ||
| Child Females Homo sapiens Myoclonic Epilepsy |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0002069 | Generalized tonic-clonic seizures | Very frequent (99-80%) |
| HP:0002123 | Generalized myoclonic seizures | Very frequent (99-80%) |
| HP:0010819 | Atonic seizures | Very frequent (99-80%) |
| HP:0010849 | EEG with spike-wave complexes (>3.5 Hz) | Very frequent (99-80%) |
| HP:0011170 | Myoclonic atonic seizures | Very frequent (99-80%) |
| HP:0001260 | Dysarthria | Frequent (79-30%) |
| HP:0001268 | Mental deterioration | Frequent (79-30%) |
| HP:0002133 | Status epilepticus | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0011203 | EEG with abnormally slow frequencies | Frequent (79-30%) |
| HP:0012658 | Abnormal brain FDG positron emission tomography | Frequent (79-30%) |
| HP:0200134 | Epileptic encephalopathy | Frequent (79-30%) |
| HP:0000718 | Aggressive behavior | Occasional (29-5%) |
| HP:0000729 | Autistic behavior | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0002121 | Absence seizure | Occasional (29-5%) |
| HP:0002373 | Febrile seizures | Occasional (29-5%) |
| HP:0007087 | obsolete Involuntary jerking movements | Occasional (29-5%) |
| HP:0007207 | Photosensitive tonic-clonic seizures | Occasional (29-5%) |
| HP:0100710 | Impulsivity | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 6 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0011097 | Epileptic spasms | 1 |